Incidental Mutation 'IGL03388:Nxf7'
ID420928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxf7
Ensembl Gene ENSMUSG00000031410
Gene Namenuclear RNA export factor 7
Synonymsnfx-a1, nxf-a2
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03388
Quality Score
Status
ChromosomeX
Chromosomal Location135579555-135598777 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 135584740 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 440 (K440E)
Ref Sequence ENSEMBL: ENSMUSP00000108788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033784] [ENSMUST00000113163] [ENSMUST00000141310] [ENSMUST00000150900]
Predicted Effect probably damaging
Transcript: ENSMUST00000033784
AA Change: K440E

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033784
Gene: ENSMUSG00000031410
AA Change: K440E

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 116 203 1.9e-42 PFAM
low complexity region 269 280 N/A INTRINSIC
Pfam:LRR_4 294 346 9.2e-8 PFAM
Pfam:NTF2 389 537 1.1e-12 PFAM
TAP_C 557 620 5.03e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113163
AA Change: K440E

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108788
Gene: ENSMUSG00000031410
AA Change: K440E

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 119 202 4.8e-37 PFAM
low complexity region 269 280 N/A INTRINSIC
Pfam:NTF2 389 537 1.8e-12 PFAM
TAP_C 557 620 5.03e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127202
Predicted Effect unknown
Transcript: ENSMUST00000137977
AA Change: K294E
SMART Domains Protein: ENSMUSP00000122993
Gene: ENSMUSG00000031410
AA Change: K294E

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 10 93 9.6e-38 PFAM
Pfam:NTF2 244 392 2.6e-13 PFAM
TAP_C 412 475 5.03e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141310
SMART Domains Protein: ENSMUSP00000117622
Gene: ENSMUSG00000031410

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 106 127 2.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150900
SMART Domains Protein: ENSMUSP00000119764
Gene: ENSMUSG00000031410

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 106 156 1.3e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired spatial learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T C 11: 117,802,770 probably benign Het
B3gnt5 A G 16: 19,770,051 K340R possibly damaging Het
Ccr3 A G 9: 124,028,621 probably benign Het
Cdan1 A G 2: 120,730,511 probably benign Het
Clasp1 T A 1: 118,505,503 D237E possibly damaging Het
Ddx18 T C 1: 121,565,923 K111E possibly damaging Het
Defa21 T C 8: 21,025,748 L54P probably damaging Het
Dennd3 T C 15: 73,544,359 V486A probably damaging Het
Dnah9 T A 11: 65,947,542 D3143V probably damaging Het
Dnm1l A G 16: 16,314,052 probably benign Het
Epb41 T C 4: 131,974,794 Y510C probably damaging Het
Fat4 T C 3: 38,957,227 Y2159H probably damaging Het
Fmo1 A G 1: 162,836,147 V271A probably benign Het
Gm11492 T A 11: 87,568,216 L472* probably null Het
Gm12185 A G 11: 48,908,286 V460A probably benign Het
Hspa8 T C 9: 40,804,928 probably benign Het
Hspb7 A G 4: 141,424,045 E166G probably damaging Het
Il31ra C A 13: 112,546,212 S120I probably damaging Het
Kdm5b A G 1: 134,627,322 T1323A probably benign Het
Lgals9 T A 11: 78,963,421 I346F probably damaging Het
Lgi2 T C 5: 52,538,477 D372G probably damaging Het
Magi3 A C 3: 104,015,841 S1187A probably benign Het
Nr1d2 A G 14: 18,215,403 F203S probably benign Het
Nup210l G A 3: 90,170,044 V896I probably damaging Het
Olfr1505 T A 19: 13,919,620 V200D probably damaging Het
Olfr776 A T 10: 129,261,443 I161F probably benign Het
Pcdhb6 T C 18: 37,336,137 S20P probably damaging Het
Per2 G T 1: 91,444,789 probably benign Het
Pi15 G A 1: 17,602,777 A67T probably benign Het
Pnp2 A T 14: 50,963,538 N160I probably damaging Het
Ppp1r12c A G 7: 4,482,070 probably benign Het
Rabgap1l A T 1: 160,733,523 probably null Het
Rnf115 G A 3: 96,788,668 V257M probably damaging Het
Rtkn T A 6: 83,150,090 V346D probably benign Het
Rubcn A T 16: 32,841,568 N427K probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sel1l2 A C 2: 140,263,364 probably benign Het
Slc5a5 A G 8: 70,890,328 V196A probably benign Het
Sox13 A T 1: 133,388,948 L207H probably damaging Het
Tmtc2 A G 10: 105,321,483 probably benign Het
Trip12 T C 1: 84,743,186 K1409R probably damaging Het
Ttn C T 2: 76,967,137 A528T probably benign Het
Ubr4 T C 4: 139,415,032 I1310T probably damaging Het
Ypel5 T C 17: 72,846,405 F35L probably damaging Het
Zfp13 G T 17: 23,576,914 R228S probably benign Het
Other mutations in Nxf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02901:Nxf7 APN X 135587235 critical splice donor site probably null
IGL02965:Nxf7 APN X 135589410 missense probably damaging 1.00
R0389:Nxf7 UTSW X 135584383 missense possibly damaging 0.58
Z1177:Nxf7 UTSW X 135588025 missense probably benign
Posted On2016-08-02